Familial Brachmann-de Lange syndrome with dorsal hypertrichosis

Hyun Sun Yoon, Seung Ho Lee, Hee Chul Eun, Oh Sang Kwon

Research output: Contribution to journalArticlepeer-review

Abstract

Brachmann-de Lange syndrome (BDLS) is a dysmorphic syndrome, including growth deficiency, characteristic facial features, mental retardation, hypertrichosis, and varied malformations of the musculoskeletal system and other organs. Although some cases of BDLS have been reported in Korea, no case has been shown to have the familial incidence. Herein, we report a familial occurrence of BDLS. A three-year-old girl visited our clinic with complaint of thick hairs on her midback since birth. She presented with the characteristic facial features of BDLS and brachydactyly which were also shown in her mother. It was suggested that the mode of transmission to the patient was autosomal dominant inheritance.

Original languageEnglish
Pages (from-to)1413-1415
Number of pages3
JournalKorean Journal of Dermatology
Volume43
Issue number10
StatePublished - Oct 2005

Keywords

  • Brachmann-de Lange syndrome
  • Dorsal hypertrichosis

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